000150511 001__ 150511
000150511 005__ 20251017144640.0
000150511 0247_ $$2doi$$a10.1111/cge.14683
000150511 0248_ $$2sideral$$a142673
000150511 037__ $$aART-2024-142673
000150511 041__ $$aeng
000150511 100__ $$0(orcid)0000-0002-8585-6371$$aBayona-Bafaluy, Pilar$$uUniversidad de Zaragoza
000150511 245__ $$aRisk Factors Associated With Leber Hereditary Optic Neuropathy due to Rare Mutations in Mitochondrial <scp>DNA</scp>-Encoded Respiratory Complex I Subunits
000150511 260__ $$c2024
000150511 5060_ $$aAccess copy available to the general public$$fUnrestricted
000150511 5203_ $$aAn in‐depth analysis of susceptibility factors modifying the penetrance of rare Leber hereditary optic neuropathy‐causing mutations in respiratory complex I genes encoded in mitochondrial deoxyribonucleic acid has not been performed. To bridge this gap, we conducted a review of the literature on rare mutations associated with LHON, selected those with substantial evidence of pathogenicity, and performed an in‐depth analysis of the various pedigrees. Examining the influences that modify the penetrance of the classical mutations associated with this disease may offer insights into susceptibility factors in individuals carrying the rare mutations.
000150511 536__ $$9info:eu-repo/grantAgreement/ES/DGA/B33-23R$$9info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI21-00229
000150511 540__ $$9info:eu-repo/semantics/openAccess$$aby-nc-nd$$uhttps://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
000150511 590__ $$a2.3$$b2024
000150511 592__ $$a1.093$$b2024
000150511 591__ $$aGENETICS & HEREDITY$$b105 / 191 = 0.55$$c2024$$dQ3$$eT2
000150511 593__ $$aGenetics (clinical)$$c2024$$dQ2
000150511 593__ $$aGenetics$$c2024$$dQ2
000150511 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000150511 700__ $$aSanz-Pons, Javier$$uUniversidad de Zaragoza
000150511 700__ $$aEsteban, Olivia
000150511 700__ $$aBueno-Borghi, Luca
000150511 700__ $$0(orcid)0000-0002-0269-7337$$aRuiz-Pesini, Eduardo$$uUniversidad de Zaragoza
000150511 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole.
000150511 773__ $$g107, 5 (2024), 505-510$$pClin. genet.$$tClinical genetics$$x0009-9163
000150511 8564_ $$s415982$$uhttps://zaguan.unizar.es/record/150511/files/texto_completo.pdf$$yVersión publicada
000150511 8564_ $$s2388386$$uhttps://zaguan.unizar.es/record/150511/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000150511 909CO $$ooai:zaguan.unizar.es:150511$$particulos$$pdriver
000150511 951__ $$a2025-10-17-14:31:45
000150511 980__ $$aARTICLE